Article
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
The Journal of clinical endocrinology and metabolism - 1 Jan 1996
Andersson S, Geissler W M, Wu L, Davis D L, Grumbach M M, New M I, Schwarz H P, Blethen S L, Mendonca B B, Bloise W, Witchel S F, Cutler G B, Griffin J E, Wilson J D, Russel D W
Abstract excerpt
Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia. Such individuals are usually raised as females, but virilize at the time of expected puberty as the result of increases in serum testosterone. Here we describe mutations in 12 additional subjects/families with this...
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